Interpretation of somatic POLE mutations in endometrial carcinoma

p53 immunohistochemistry is an accurate surrogate for TP53 mutational analysis in endometrial carcinoma biopsies

(2019) Naveena Singh et al.   JOURNAL OF PATHOLOGY

Clinicopathological and molecular characterisation of ‘multiple‐classifier’ endometrial carcinomas

(2019) Alicia León‐Castillo et al.   JOURNAL OF PATHOLOGY

Final validation of the ProMisE molecular classifier for endometrial carcinoma in a large population-based case series

(2018) S Kommoss et al.   ANNALS OF ONCOLOGY

Distinct mutational signatures characterize concurrent loss of polymerase proofreading and mismatch repair

(2018) N. J. Haradhvala et al.   Nature Communications

Polymerase ε (POLE) ultra-mutation in uterine tumors correlates with T lymphocyte infiltration and increased resistance to platinum-based chemotherapy in vitro

(2017) Stefania Bellone et al.   GYNECOLOGIC ONCOLOGY

Immunological profiling of molecularly classified high-risk endometrial cancers identifies POLE-mutant and microsatellite unstable carcinomas as candidates for checkpoint inhibition

(2017) Florine A. Eggink et al.   OncoImmunology

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

(2016) Nilah M. Ioannidis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Understanding mutagenesis through delineation of mutational signatures in human cancer

(2016) Mia Petljak et al.   CARCINOGENESIS

Endometrial Carcinomas with POLE Exonuclease Domain Mutations Have a Favorable Prognosis

(2016) M. K. McConechy et al.   CLINICAL CANCER RESEARCH

Improved Risk Assessment by Integrating Molecular and Clinicopathological Factors in Early-stage Endometrial Cancer—Combined Analysis of the PORTEC Cohorts

(2016) Ellen Stelloo et al.   CLINICAL CANCER RESEARCH

Mutation spectrum of POLE and POLD1 mutations in South East Asian women presenting with grade 3 endometrioid endometrial carcinomas

(2016) Adele Wong et al.   GYNECOLOGIC ONCOLOGY

Somatic ERCC2 mutations are associated with a distinct genomic signature in urothelial tumors

(2016) Jaegil Kim et al.   NATURE GENETICS

Better prediction of functional effects for sequence variants

(2015) Maximilian Hecht et al.   BMC GENOMICS

A clinically applicable molecular-based classification for endometrial cancers

(2015) A Talhouk et al.   BRITISH JOURNAL OF CANCER

POLE Proofreading Mutations Elicit an Antitumor Immune Response in Endometrial Cancer

(2015) I. C. van Gool et al.   CLINICAL CANCER RESEARCH

Combined mismatch repair and POLE/POLD1 defects explain unresolved suspected Lynch syndrome cancers

(2015) Anne ML Jansen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Polymerase ε (POLE) ultra-mutated tumors induce robust tumor-specific CD4+ T cell responses in endometrial cancer patients

(2015) Stefania Bellone et al.   GYNECOLOGIC ONCOLOGY

Refining prognosis and identifying targetable pathways for high-risk endometrial cancer; a TransPORTEC initiative

(2015) Ellen Stelloo et al.   MODERN PATHOLOGY

PANTHER version 10: expanded protein families and functions, and analysis tools

(2015) Huaiyu Mi et al.   NUCLEIC ACIDS RESEARCH

Association of Polymerase e–Mutated and Microsatellite-Instable Endometrial Cancers With Neoantigen Load, Number of Tumor-Infiltrating Lymphocytes, and Expression of PD-1 and PD-L1

(2015) Brooke E. Howitt et al.   JAMA Oncology

Polymerase ɛ (POLE) mutations in endometrial cancer: Clinical outcomes and implications for Lynch syndrome testing

(2014) Caroline C. Billingsley et al.   CANCER

Exonuclease mutations in DNA polymerase epsilon reveal replication strand specific mutation patterns and human origins of replication

(2014) Eve Shinbrot et al.   GENOME RESEARCH

POLE exonuclease domain mutation predicts long progression-free survival in grade 3 endometrioid carcinoma of the endometrium

(2014) Bo Meng et al.   GYNECOLOGIC ONCOLOGY

New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis

(2014) Laura Valle et al.   HUMAN MOLECULAR GENETICS

Prognostic Significance of POLE Proofreading Mutations in Endometrial Cancer

(2014) David N. Church et al.   JNCI-Journal of the National Cancer Institute

Clinicopathological analysis of endometrial carcinomas harboring somatic POLE exonuclease domain mutations

(2014) Yaser R Hussein et al.   MODERN PATHOLOGY

DNA polymerase ɛ and δ exonuclease domain mutations in endometrial cancer

(2013) David N. Church et al.   HUMAN MOLECULAR GENETICS

Integrated genomic characterization of endometrial carcinoma

(2013) Gad Getz et al.   NATURE

Signatures of mutational processes in human cancer

(2013) Ludmil B. Alexandrov et al.   NATURE

Landscape of somatic single-nucleotide and copy-number mutations in uterine serous carcinoma

(2013) S. Zhao et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Exome sequencing of serous endometrial tumors identifies recurrent somatic mutations in chromatin-remodeling and ubiquitin ligase complex genes

(2012) Matthieu Le Gallo et al.   NATURE GENETICS

Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas

(2012) Claire Palles et al.   NATURE GENETICS

Predicting the Functional Effect of Amino Acid Substitutions and Indels

(2012) Yongwook Choi et al.   PLoS One

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols